Ya parsley syndrome - matenda ali nthawizonse "odala" munthu

Ya parsley Syndrome, wodziwika mu mabwalo sayansi Angelman syndrome, ndi neuro-majini kudwala kuti amakhala ndi kuchedwa chitukuko cha magawo ozindikira ndipo thupi la munthu, kuphwanya kwa modes kugona ndi maso, khunyu, kayendedwe mwadzidzidzi zosathandiza ya nthambi. Ndi nkhope anthu sasiya kumwetulira, nthawi zonse akusekerera popanda chifukwa, nayang'ana wamphamvu osangalala. kayendedwe dzanja amakhala ngati chimwemwe, kuomba mmanja. Syndrome ya parsley amatchedwanso matenda osangalala zidole, monga anthu odwala ali ngati chidole, ndi kumwetulira zonse pa nkhope yake ndi yaing'ono pafupipafupi kukokana manja, anawerama pa chigongono - tsitsi ndi kupingasa monga zidole, ndi zingwe za amene ntchito ndi puppeteer a.

Kwa nthawi yoyamba kudwala pamajini limafotokonzera 1965 ndi Dr. Harry Angelmanom dokotala, amene anaona ana atatu olumala ndi matenda izi. Iyo inali nthawi yoyamba iye ndi odwala lake lotchedwa "zidole ana." Kungotchula ina ya matenda anaonekera mu US mu 80s oyambirira. Ya parsley Syndrome - matenda zofala. Pafupipafupi pakuwonekera kwake pa deta zowerengera a University Washington (USA) ndi 1: 20,000 ongobadwa kumene.

Chibadwa syndrome Angelman chifukwa cha kupanda majini angapo kuchokera khromozomu 15. Nthawi zina, tsankho kufufutidwa, mwachitsanzo imfa ya dera jini, kapena kusintha la 15 somatic khromozomu. Kawirikawiri amakhudza khromozomu akuchikazi, umene wadutsa kuchokera mayi kwa mwana wosabadwayo. Koma amathanso kuonongeka ndi bambo ake, zimene zinachitikira matenda amadziwika matenda Prader-Willi. The karyotype mwa anthu schematically amaimira monga XX kapena 46 XY, 15r-. Mowiriza chromosomal chilema amakhala ndi pakalibe lalikulu contiguous dera ambiri (mpaka 3-4 miliyoni) awiriawiri zapansi DNA m'dera q11-q13 magawo 15 TH khromozomu. maphunziro Independent kuwulula zimayambitsa kusintha mutational chifukwa cha kusintha mutational mu UBE3A mbewu. The mankhwala a mbewu imeneyi ndi puloteni zikuluzikulu za dongosolo kuipidwa mapulotini kudzitsitsa. Ya parsley akhoza oterewa vuto ndi kusanthula chibadwa.

Ana matenda Angelman ana ndi vuto la chakudya, makamaka kutangoyamba kucha, musati kunenepa. Patapita kanthawi, mungaone kuti akuchedwa injini chitukuko cha mwana luso ambiri, omwe ndi mochedwa kwambiri kuti anayamba kukhala ndi kuyenda. Pali zoipa, kulankhula osauka. Ana ameneŵa kwambiri kudziwa kuposa angathe kapena kunena.

Pa zaka sukulu, pali mavuto ndithu ndi maphunziro wa anthu amene anapezeka ndi matenda parsley, awa anyamata angathe kuwerenga Movutikira. Iwo sasamala kwambiri ndi hyperactive. Khunyu ndi kayendedwe zachilendo, makamaka, chabwino kugwedeza omenyera wachisokonezo wa miyendo pafupipafupi kuseka popanda chifukwa kusiyanitsa ana awa. Odwala anaona gait khalidwe - stiffly. Ndi chifukwa cha nkhani zimenezi, iwo amatchedwa zidole. iwonso mutu waung'ono ndi pang'ono flattened kumbuyo kwa mutu, kukamwa, otchuka chibwano, mipata yaikulu pakati pa mano ndi yotundumukira kunja kwa mpanda lilime. Komanso theka la odwala ndi strabismus, kupindika msana ndi kudziwa kutentha m'mwamba.

Ya parsley Syndrome panopa alibe mankhwala enieni, koma luso la moyo odwala n'zotheka mothandizidwa ndi miyeso angapo achire. Ana kuchita kutikita gwiritsirani physiotherapy. Pa ana sukulu zaka nawo mawu madokotala ndi pathologists kulankhula. Kuti matenda tulo iye Kwalamulidwa kugona mosavuta. Khunyu khunyu asonyezedwa anticonvulsants. Nthawi zambiri, ana amaphunzitsidwa chinenero chamanja.

Ya parsley syndrome ndi zambiri bwanji anyamata, koma atsikana komanso timakhala matenda. Mu yochizira matenda, nkhani ya mimba ya mkazi ndi osangalala zidole syndrome, amene anabereka mwana wamkazi, nayenso, "achimwemwe." Only mtengo wa chimwemwe chochuluka odwala anthu ndi amazipanga mkulu ...